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Disease Atlas
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Disease Atlas
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Show Cases Added By Recency:
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All Diseases
7
I: Photoreceptor Diseases
7
IA: Isolated
7
IA1: Acquired/Progressive
IA2: Congenital/Stationary
7
IA2a: LCA
IA2b: SECORD
IA2c: ECORD
IA2d: Achromatopsia (Congenital Stationary Cone Dysfunction)
IA2e: Blue Cone Monochromacy
IA2f: Congenital Stationary Night Blindness
7
IA2fi: X-linked CSNB
IA2fii: Autosomal Dominant
IA2fiii: Autosomal Recessive with Normal Fundus
IA2fiv: Enhanced S-cone Syndrome
7
SR1777
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR28
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR2134
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR2295
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR2720
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR411
| Enhanced S-Cone Syndrome | Gene: NR2E3
SR67
| Enhanced S-Cone Syndrome | Gene: NR2E3
IA2fv: Fundus Albipunctatus
Other Congenital Stationary Night Blindness
IA2g: Congenital Stationary Synaptic Dysfunction
IB: Syndromic
IB1: Usher Syndrome
IB1a: Type I
IB1b: Type II
IB1c: Type III
Other Usher Syndrome
IB2: Bardet Biedl Syndrome
SR1065
| Bardet Biedl Syndrome | Gene: BBS1
SR114
| Bardet Biedl Syndrome | Gene: BBS1
SR2059
| Bardet Biedl Syndrome | Gene: BBS1
SR2842
| Bardet Biedl Syndrome | Gene: BBS1
SR343
| Bardet Biedl Syndrome | Gene: BBS1
SR540
| Bardet Biedl Syndrome | Gene: BBS1
SR56
| Bardet Biedl Syndrome | Gene: BBS1
SR451
| Bardet Biedl Syndrome | Gene: BBS2
SR1897
| Bardet Biedl Syndrome | Gene: BBS10
SR1914
| Bardet Biedl Syndrome | Gene: BBS10
SR32
| Bardet Biedl Syndrome | Gene: BBS10
SR1058
| Bardet Biedl Syndrome | Gene: MKKS
SR321
| Bardet Biedl Syndrome | Gene: BBS9
IB3: Neuronal Ceroid Lipofucinosis
IB4: Senior-Loken Syndrome
IB5: Joubert Syndrome
IB6: Microcephaly with or without Chorioretinopathy, Lymphedema
IB7: Retinitis Pigmentosa with Ataxia
IB8: Peroxisomal Biogenesis Disorders
IB9: Cohen Syndrome
SR497
| Cohen Syndrome | Gene: VPS13B
SR531
| Cohen Syndrome | Gene: VPS13B
SR597
| Cohen Syndrome | Gene: VPS13B
IB10: Retinitis Pigmentosa with Anemia
IB11: Retinitis Pigmentosa with Cognitive Impairment
Other Syndromic
II: Macular Diseases
IIA: Autosomal Recessive Stargardt Disease
IIB: Best Disease
IIC: Pattern Dystrophy
IID: Syndromic Macular Diseases
IIE: Occult Macular Dystrophy
SR869
| Occult Macular Dystrophy | Gene: RP1L1
SR1887
| Occult Macular Dystrophy | Gene: RP1L1
SR879
| Occult Macular Dystrophy | Gene: RP1L1
SR955
| Occult Macular Dystrophy | Gene: RP1L1
SR988
| Occult Macular Dystrophy | Gene: RP1L1
IIF: Stargardt-like Dominant Macular Dystrophy
IIG: North Carolina Macular Dystrophy
IIH: Sorsby Fundus Dystrophy
IIJ: Malattia Leventinese
Other Macular Diseases
III: Third Branch Disorders